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J Intern Med. 2009 Feb;265(2):266-74. doi: 10.1111/j.1365-2796.2008.02014.x. Epub 2008 Sep 10.

Blood p50 evaluation enhances diagnostic definition of isolated erythrocytosis.

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1
Division of Hematology, Fondazione IRCCS Policlinico San Matteo, University of Pavia, Pavia, Italy.

Abstract

BACKGROUND:

High oxygen-affinity haemoglobin variants and 2,3-diphosphoglycerate (2,3-DPG) deficiency are inherited diseases generating low tissue oxygen tension and erythropoietin-driven erythrocytosis, that characterizes the clinical phenotype of patients. Level of blood p50 (the oxygen tension at which haemoglobin is 50% saturated) is used to recognize these conditions.

OBJECTIVES:

To define the clinical utility of blood p50 measurement in the diagnosis of isolated erythrocytosis.

SUBJECTS AND DESIGN:

Venous blood p50 measurement was included in the diagnostic work-up of 102 consecutive patients with isolated erythrocytosis besides blood cell count, arterial oxygen saturation, serum erythropoietin measurement and screening for JAK2 mutations.

SETTING:

Haematological Outpatient Section at University Hospital.

RESULTS:

Seven patients had relative erythrocytosis. Among 95 patients with absolute erythrocytosis, 4 (4.2%) had decreased p50 level. The extended study of family members revealed a familial inheritance. Two families had haemoglobin variants already described as Haemoglobin Malmö and Haemoglobin San Diego. In one family, the proband had a new high oxygen-affinity haemoglobin variant (Haemoglobin Safi) resulting from the transversion C-->A at codon 81 of the alpha2-globin gene. In the last family, a deficiency of 2,3-DPG was found. Within the 91 patients with normal p50 values, 46 (51%) had secondary erythrocytosis, 13 (14%) polycythemia vera and 32 (35%) idiopathic erythrocytosis.

CONCLUSIONS:

This study suggests that the investigation of blood p50 level may be useful to define diagnosis in patients with isolated erythrocytosis.

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